The aim of this project is the improvement of high-throughput data analysis for the determination of genetic variants involved in chidren's diseases.
The analysis of high-throughput datas such as RNAseq, Chipseq and in our case exome require several steps such as alignmment, normalization, SNPs and indels callings
All these steps can be improved by the use of different bioinformatic tools with the best parameters and by the development of new tools.
These improvments will allow us to find more genetic mutations involved in children's diseases and to decrease the number of false postives variants.